Mort M - Search Results

1

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, Tüysüz B, Gabrielli O, Grossi S, Scarpa M, Parenti G, Antuzzi D, Dalmau J, Di Rocco M, Dionisi Vici C, Okur I, Rosell J, Rovelli A, Furlan F, Rigoldi M, Biondi A, Cooper DN, Parini R. Bertola F, et al. Among authors: mort m. Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21394825

2

Human Gene Mutation Database (HGMD): 2003 update.

Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. Stenson PD, et al. Among authors: mort m. Hum Mutat. 2003 Jun;21(6):577-81. doi: 10.1002/humu.10212. Hum Mutat. 2003. PMID: 12754702

3

In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularity.

Khan IA, Mort M, Buckland PR, O'Donovan MC, Cooper DN, Chuzhanova NA. Khan IA, et al. Among authors: mort m. In Silico Biol. 2006;6(1-2):23-34. In Silico Biol. 2006. PMID: 16789908

4

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, Cooper DN. Krawczak M, et al. Among authors: mort m. Hum Mutat. 2007 Feb;28(2):150-8. doi: 10.1002/humu.20400. Hum Mutat. 2007. PMID: 17001642

5

A meta-analysis of nonsense mutations causing human genetic disease.

Mort M, Ivanov D, Cooper DN, Chuzhanova NA. Mort M, et al. Hum Mutat. 2008 Aug;29(8):1037-47. doi: 10.1002/humu.20763. Hum Mutat. 2008. PMID: 18454449

6

Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts.

Sanford JR, Wang X, Mort M, Vanduyn N, Cooper DN, Mooney SD, Edenberg HJ, Liu Y. Sanford JR, et al. Among authors: mort m. Genome Res. 2009 Mar;19(3):381-94. doi: 10.1101/gr.082503.108. Epub 2008 Dec 30. Genome Res. 2009. PMID: 19116412 Free PMC article.

7

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics.

Stenson PD, Ball EV, Howells K, Phillips AD, Mort M, Cooper DN. Stenson PD, et al. Among authors: mort m. Hum Genomics. 2009 Dec;4(2):69-72. doi: 10.1186/1479-7364-4-2-69. Hum Genomics. 2009. PMID: 20038494 Free PMC article. No abstract available.

8

In silico functional profiling of human disease-associated and polymorphic amino acid substitutions.

Mort M, Evani US, Krishnan VG, Kamati KK, Baenziger PH, Bagchi A, Peters BJ, Sathyesh R, Li B, Sun Y, Xue B, Shah NH, Kann MG, Cooper DN, Radivojac P, Mooney SD. Mort M, et al. Hum Mutat. 2010 Mar;31(3):335-46. doi: 10.1002/humu.21192. Hum Mutat. 2010. PMID: 20052762 Free PMC article.

9

Do inherited disease genes have distinguishing functional characteristics?

Cooper DN, Mort M. Cooper DN, et al. Among authors: mort m. Genet Test Mol Biomarkers. 2010 Jun;14(3):289-91. doi: 10.1089/gtmb.2010.0033. Genet Test Mol Biomarkers. 2010. PMID: 20367189 No abstract available.

10

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.

Cooper DN, Chen JM, Ball EV, Howells K, Mort M, Phillips AD, Chuzhanova N, Krawczak M, Kehrer-Sawatzki H, Stenson PD. Cooper DN, et al. Among authors: mort m. Hum Mutat. 2010 Jun;31(6):631-55. doi: 10.1002/humu.21260. Hum Mutat. 2010. PMID: 20506564 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

165 results

Search Page